X-linked severe combined immunodeficiency
ADA deficiency
Mucopolysaccharidosis
Familial hypercholesterolemia
Cystic fibrosis
Hemophilia B (factor IX deficiency)
Chronic granulomatous disease

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X-linked severe combined immunodeficiency

Abstract- Marina Cavazzana-Calvo, Salima Hacein-Bey, Geneviève de Saint Basile, Fabian Gross, Eric Yvon, Patrick Nusbaum, Françoise Selz, Christophe Hue, Stéphanie Certain, Jean-Laurent Casanova, Philippe Bousso, Françoise Le Deist, Alain Fischer. Gene Therapy of Human Severe Combined Immunodeficiency (SCID)-X1 Disease. Science 2000; 288: 669-672.

ADA deficiency (ADA-SCID)

Abstract- Culver K, Anderson F, Blaese R. Lymphocyte gene therapy.
Hum Gene Ther 1991; 2: 107-109.

Abstract- Blaese RM, Culver KW, Miller AD, Carter CS, Fleisher T, Clerici M, Shearer G, Chang L, Chiang W, Tolstshev P, Greenblatt JJ, Rosenberg SA, Klein H, Berger M, Mullen CA, Ramsey WJ , Muul L, Morgan RA, Anderson WF. T lymphocyte-directed gene therapy for ADA-SCID: initial trial results after 4 years.
Science 1995; 270: 475-480.

Abstract- Sakiyama Y. Clinical study of gene therapy for ADA deficiency.
Arerugi 1996; 45: 621-626.

Sakiyama Y. Gene therapy for adenosine deaminase deficiency.
Hokkaido Igaku Zasshi 1996; 71: 27-32.

Abstract- Onodera M, Ariga T, Kawamura N, Kobayashi I, Ohtsu M, Yamada M, Tame A, Furuta H, Okano M, Matsumoto S, Kotani H, McGarrity GJ, Blaese RM, and Sakiyama Y. (1998) Successful Peripheral T-Lymphocyte-Directed Gene Transfer for a Patient With Severe Combined Immune Deficiency Caused by Adenosine Deaminase Deficiency.
Blood 91: 30-36.

Kohn D, Weinberg KI, Parkman P, Lenarsky C, Crooks GM, Shaw K, Hanley ME, Lawrence K, Anett G, Brooks JS, Wara D, Elder M, Bowen T, Hershfield MS, Berenson RI, Moen RC, Mullen CA, Blaese RM. Gene therapy for neonates with ADA-deficient SCID by retroviral-mediated transfer of the human ADA cDNA into umbilical cord CD34+ cells.
Blood 1993; 82 (suppl. 1): 315a (Abstract 1245).

Abstract- Kohn DB, Hershfield MS, Carbonaro D, Shigeoka A Brooks J, Smogorzewska EM, Barsky LW, Chan R, Burotto F Annett G, Nolta JA, Crooks G, Kapoor N, Elder M, Wara D Bowen T, Madsen E, Snyder FF, Bastian J, Muul L, Blaese RM Weinberg K, Parkman R (1998) T lymphocytes with a normal ADA gene accumulate after transplantation of transduced autologous umbilical cord blood CD34+ cells in ADA- deficient SCID neonates.
Nat Med 4(7):775-80.

Abstract- Bordignon C, Notarangelo LD, Nobili N, Ferrari G, Casorati G, Panina P, Mazzoari E, Maggini D, Rossi C, Servida P, Ugazio AG, Mavilio F. Gene therapy in peripheral blood lymphocytes and bone marrow for ADA-immunodeficient patients.
Science 1995; 270: 470-475.

Hoogerbrugge PM, Valerio D, Levinsky RJ; Harvey M Moseley A Skeoch CH, Fairbanks LD, Gaspar B, Morgan G, Perignon JL, le Deist F, Debree M, Fischer A, van Beusechem VW. Bone marrow gene transfer in three patients with adenosine deaminase deficiency.
Gene Ther 1996; 3: 179-83.

Mucopolysaccharidosis

Abstract- Stroncek DF; Hubel A; Shankar RA; Burger SR; Pan D; McCullough J; Whitley CB. Retroviral transduction and expansion of peripheral blood lymphocytes for the treatment of mucopolysaccharidosis type II, Hunter's syndrome.
Transfusion 1999; 39(4):343-50.

Familial hypercholesterolemia

Abstract- Grossmann M, Raper S, Kozarsky K, Stein E, Engelhardt J, Muller D, Lupien P, Wilson J. Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolemia. Nature Genet 1994; 6: 335-341.

Cystic fibrosis

Abstract- Crystal R, McElvaney M, Rosenfeld M, Chu C, Mastrangeli A, Hay J, Brody S, Jaffe H, Eissa N, Danel C. Administration of an Adenovirus containing the human CFTR cDNA to the respiratory tract of individuals with cystic fibrosis.
Nature Genet 1994; 8: 42-50.

Abstract- Zabner J, Couture L, Gregory R, Graham S, Smith A, Welsh M. Adenovirus-mediated gene transfer transiently corrects the chloride transport defect in nasal epithelia of patients with cystic fibrosis. Cell 1993; 75: 207-216.

Abstract- Boucher RC, Knowles MR, Johnson LG, Olsen JC, Pickles R, Wilson JM, Engelhardt J, Yang Y, Grossman M. Gene therapy for cystic fibrosis using E1-deleted adenovirus: a phase I trial in the nasal cavity. The University of North Carolina at Chapel Hill.
Hum Gene Ther 1994; 5: 615-639.

Abstract- Caplen NJ, Alton EWFW, Middelton PG, Dorin JR, Stevenson BJ, Gao X, Durham SR, Jeffery PK, Hodson ME, Coutelle C, Huang L, Porteous DJ, Williamson R, Geddes DM. Liposome-mediated CFTR gene transfer to the nasal epithelium of patients with cystic fibrosis.
Nature Med 1995; 1(1): 39-46.

Abstract- Bellon G, Michel-Calemard L, Thouvenot D, Jagneaux V, Poitevin G, Malcus C, Accart M, Layani MP, Aymard M, Bernon H, Bienvenu J, Courtney M, Döring G, Gilly B, Gilly R, Lamy D, Levrey H, Morel Y, Paulin C, Perraud F, Rodillon L, Sené C, So S, Touraine-Moulin F, Schatz C, Pavirani A. Aerosol administration of a recombinant adenovirus expressing CFTR to cystic fibrosis patients: a phase I clinical trial.
Hum Gen Ther 1997; 8: 15-25.

Abstract- Gill DR, Southern KW, Mofford KA, Seddon T, Huang L, Sorgi F, Thomson A, MacVinish LJ, Ratcliff R, Bilton D, Lane DJ, Littlewood JM, Webb AK, Middleton PG, Colledge WH, Cuthbert AW, Evans MJ, Higgins CF, Hyde SC. A placebo-controlled study of liposome-mediated gene transfer to the nasal epithelium of patients with cystic fibrosis.
Gene Ther 1997; 4: 199-209.

Abstract- Porteous DJ, Dorin JR, McLachlan G, Davidson-Smith H, Davidson H, Stevenson BJ, Carothers AD, Wallace WAH, Moralee S, Hoenes C, Kallmeyer G, Michaelis U, Naujoks K, Ho LP, Samways JM, Imrie M, Greening AP, Innes JA. Evidence for safety and efficacy of DOTAP cationic liposome mediated CFTR gene transfer to the nasal epithelium of patients with cystic fibrosis.
Gene Ther 1997; 4: 210-218.

Hemophilia B (factor IX deficiency)

Abstract- Lu DR, Zhou JM, Zheng B, Qiu XF, Xue JL, Wang JM, Meng PL, Han FL, Ming BH, Wang XP. Stage I clinical trial of gene therapy for hemophilia B.
Sci China B (China) 1993; 36(11): 1342-1351.

Abstract- Qiu X, Lu D, Zhou J, Wang J, Yang J, Meng P, Hsueh JL (1996) Implantation of autologous skin fibroblasts genetically modified to secrete clotting factor IX partially corrects the hemorrhagic tendencies in two hemophilia B patients.
Chin Med J (Engl) 109: 832-839

Chronic granulomatous disease (p47phox deficiency)

Abstract- Malech HL, Maples PB, Whiting-Theobald N, Linton GF, Sekhsaria S, Vowells SJ, Li F, Miller JA, DeCarlo E, Holland SM, Leitman SF, Carter CS, Butz RE, Read EJ, Fleischer TA, Schneiderman RD, Van Epps DE, Spratt SK, Maack CA, Rokovitch JA, Cohen LK, Gallin JI (1997) Prolonged production of NADPH oxidase-corrected granulocytes after gene therapy of chronic granulomatous disease.
PNAS USA 94(22):12133-8.